A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718832



Internal ID9953124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53616483..53617928hg38UCSC Ensembl
Outerchr19:54119737..54121182hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725553, essv6773185, essv6750432
SamplesSSM045, SSM065, SSM056
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2718832
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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